Colorado boy helps get cystic fibrosis treatment approved

Unrecognizable female nurse holds a pediatric nebulizer. The nurse is wearing scrubs and a stethoscope.Nurse holds a nebulizer

FORT COLLINS — Noah Colbert is kind of an expert on clinical trials. He’s participated in many over the 12 years of his life. He admits he likes the gift cards he gets in return — he used a recent payment to buy a laptop so he could play Fortnite during his daily lung therapy — but he also likes the idea of doing what he can to help other kids with cystic fibrosis.

Jim Colbert, Noah’s dad, said they’ve participated in clinical trials for most of Noah’s life in order to do everything they can to improve it and to help other people with the disease.

Most recently, the Fort Collins preteen participated in a clinical trial for a drug called Symdeko, which the FDA approved for use this year.

“You have to keep in mind you’re not just helping yourself,” Noah said. “You’re helping other people.”

And it did help — almost immediately.

Noah’s airways opened a bit soon after he first took Symdeko.

He could breathe better. He could smell better. He could taste better.

His favorite food was crab even before he could really taste it, he said, but now he enjoys it so much more.

Before, thick mucus caused by cystic fibrosis typically closed his nasal passage and made it hard for him to enjoy such things.

The progressive genetic disease causes thick, sticky buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs airways and traps bacteria, which can lead to infection, according to the Cystic Fibrosis Foundation. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb nutrients.

It’s caused by a genetic mutation that results in mucus buildup in cells.

Folks with the disease typically have to undergo 1-2 hours of daily airway treatments and take anywhere from 30-50 pills each day to manage the disease.

Since starting Symdeko, Noah takes 28 pills per day.

Edith Zemanick, a pulmonologist at Colorado Children’s Hospital, said cystic fibrosis research has progressed significantly in recent years.

In 2012, only about 4 percent of people with cystic fibrosis could benefit from the medicine on the market, Zemanick said. That’s determined by the kind of genetic mutation that caused the disease — there are 1,700 mutations that cause cystic fibrosis, according to the Cystic Fibrosis Foundation.

In 2015, that number grew to 10 percent with new drug developments.

Symdeko, approved in February, will help about 60 percent of people with cystic fibrosis.

“At this point, it’s not a cure but it’s a great step,” Zemanick said.

She’s noticed her own patients coming to the hospital less frequently once they’ve started taking Symdeko. That helps them maintain more regular lives with school and work, she said.

Noah plans to run cross country for Polaris Expeditionary Learning School in Fort Collins next year. He’s been practicing. He also likes rock climbing and soccer. He also plans to learn to sail this summer.

All that activity will help slow the decline in his lungs.

Historically, children with cystic fibrosis died as infants, according to National Jewish Health. The median survival was still less than 20 years in 1980. In 2006, the life expectancy jumped to 37 ½ years.

Zemanick said the life expectancy for patients diagnosed with the disease is now at 47. She expects that to continue to improve as more treatments are developed, including another drug that could cast a wider net by benefiting 90 percent of people with cystic fibrosis.

That treatment is currently in the research process.

Early diagnosis, which can help delay the progression of cystic fibrosis, has ramped up with newborn screenings, Zemanick said.

Libby Colbert, Noah’s mom, said that’s how he was diagnosed.

She knew instinctively something wasn’t quite right when Noah was born, but tests confirmed it. She got the call while she was driving.

“I had to pull off the road and process it,” Libby said.

Neither Libby nor Jim were aware of any family history of cystic fibrosis. But they figured out how to support each other, Libby said. The rest of their family has been supportive, too.

In the beginning, Libby said she was vigilant about germs and extremely protective. If Noah got sick, she felt guilty.

She’s still careful, but “we came to the point when Noah was young that we would do everything we could to take care of him, but at the same time not to diminish his quality of life,” she said.

That meant Noah could go to public schools and do normal kid things, within reason. It took a while to find a balance, Libby said, but they’re in a good groove now.

Noah comes to Colorado Children’s Hospital quarterly so doctors can see how he’s doing. Despite the frequent check-ups, he’s still a regular kid.

On Wednesday, doctors commented on how tall he’d grown since his last visit.

The unknowns are the hardest part, Libby said.

As a parent, she’s learned over the years that it’s OK to have bad days. She’s learned to ask for help when she needs it — from family, doctors, online forums and the school district. She’s learned to ask Noah and the rest of the family open, honest questions.

She wishes, of course, that Noah didn’t have to deal with the disease. But she loves who he is and who he’s become.

“When he was 4, he said ‘I’m kinda glad I have CF’,” Libby recalled. “I said, ‘Why do you say that buddy?’ He said, ‘Well, if I didn’t have CF, I wouldn’t be me.’”

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